ClinVar Miner

Submissions for variant NM_001329943.3(KIAA0586):c.2047_2048del (p.Glu683fs)

dbSNP: rs2140887842
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001972654 SCV002247243 pathogenic Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 2020-12-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu736Thrfs*3) in the KIAA0586 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in KIAA0586 are known to be pathogenic (PMID: 26096313, 26166481, 26386044). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with KIAA0586-related conditions. For these reasons, this variant has been classified as Pathogenic.

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